Lec 04: Immunodeficiency Flashcards
- defect or deficiency in the immune system leading to abnormal function and decreased immune response
Immunodeficiency
Match:
- caused by INHERITED disorders or genetic mutations leading to immunodeficiency
- It is possible to have an acquired
immunodeficiency secondary to infections (e.g., HIV or Acquired Immunodeficiency Syndrome –AIDS
A. Primary
B. Secondary
AB
Primary Immunodeficiency can be categorized
into five (5)
(A) Phagocyte Cell Function Disorder / Phagocyte Deficiency
(B) Complement Deficiency
(C) B-Cell Deficiency
(D) T-Cell Deficiency
(E) Combined B & T Cell Deficiency
PHAGOCYTE CELL FUNCTION DISORDER
(1) Chronic Granulomatous Disease
(2) Job Syndrome
(3) Lazy Leukocyte Syndrome
(4) Chediak-Higashi Syndrome
(5) Leukcoyte Adhesion Deficiency
(A) B-Cell Deficiency
(B) T-Cell Deficiency
(C) Phagocyte Cell Function Disorder/Phagocyte Deficiency
(D) Complement Deficiency
(E) Combined B & T Cell Deficiency
not a matching type unless told
C
(1) Di George Syndrome
(2) Chronic Mucocutaneous Candidiasis
(A) B-Cell Deficiency
(B) T-Cell Deficiency
(C) Phagocyte Cell Function Disorder/Phagocyte Deficiency
(D) Complement Deficiency
(E) Combined B & T Cell Deficiency
B
(1) Bruton X-linked hypogammaglobulinemia
(2) Transient hypogammaglobulinemia of Infants
(3) Common variable hypogammaglobulinemia
(4) Dysgammaglobulinemia
(A) B-Cell Deficiency
(B) T-Cell Deficiency
(C) Phagocyte Cell Function Disorder/Phagocyte Deficiency
(D) Complement Deficiency
(E) Combined B & T Cell Deficiency
A
(1) Adenosine Deaminase (ADA) Deficiency
(2) Wiskott-Aldrich Syndrome (X-linked)
(3) Severe Combined Immunodeficiency Disorder
(SCID)
(4) Ataxia Telangiectasia
(A) B-Cell Deficiency
(B) T-Cell Deficiency
(C) Phagocyte Cell Function Disorder/Phagocyte Deficiency
(D) Complement Deficiency
(E) Combined B & T Cell Deficiency
E
Enumerate the B-cell deficiencies
- Bruton X-linked Hypogammaglobulinemia
- Transient Hypogammaglobulinemia of Infants
- Common Variable Hypogammaglobulinemia
- Dysgammaglobulinemia
- Lupus-like; Opsonization not efficient (LAD)
- pyogenic infection Septicemia; AGN
- Recurrent Neisseria Infection
- Hereditary Angioedema
(A) B-Cell Deficiency
(B) T-Cell Deficiency
(C) Phagocyte Cell Function Disorder/Phagocyte Deficiency
(D) Complement Deficiency
(E) Combined B & T Cell Deficiency
D
PHAGOCYTE CELL FUNCTION DISORDER / PHAGOCYTE DEFICIENCY
Matching
(1) Chronic Granulomatous Disease
(2) Job Syndrome
(3) Lazy Leukocyte Syndrome
(4) Chediak-Higashi Syndrome
(5) Leukcoyte Adhesion Deficiency
A. LYST gene mutation; Granule Structural Defect; Decreased neutrophil and NK cell activity
B. CD 18 Deficiency; Defective opsonization, adhesion, mobilization, and chemotaxis leading to recurrent infection with extracellular pathogens
C. Caused by X-linked or autosomal recessive gene that affects neutrophil microbiocidal function; NADPH oxidase Deficiency
D. Abnormal chemotaxis, normal random movement
B. Abnormal chemotaxis and random movement
CDEAB
TESTS FOR CHRONIC GRANULOMATOUS DISEASE
- Based on the reduction of nitroblue tetrazolium
- Colorless → blue precipitate
Therefore, we can say that the neutrophil is NORMAL if there is resence of blue precipitates on the neutrophil
Nitroblue tetrazolium (NBT)
TESTS FOR CHRONIC GRANULOMATOUS DISEASE
- Dihydrorhodamine (DHR) – label used
- Based on the reduction of dihydrorhodamine
Flow cytometric assay
Complement Deficiency
Matching
1. Lupus-like; Opsonization not efficient (LAD)
2. Increase Incidence of connective tissue disorder (SLE)
3. Increased susceptibility to pyogenic infection Septicemia; AGN
4. Recurrent Neisseria Infection
5. Hereditary Angioedema
A. C3
B. C5, 6, 7, 8, 9
C. C1INH
D. C1qrs, C4, C2
E. C2
DEABC
In this deficiency, there’s no immunoglobulin and opsonization and complement activation as immunoglobulins are important and complement activation
B cell deficiency
B-CELL DEFICIENCY
MATCHING
2. 1. Bruton X-linked hypogammaglobulinemia
2. Transient hypogammaglobulinemia of Infants
3. Common variable hypogammaglobulinemia
4. Dysgammaglobulinemia
A. Deficiency in Tyrosine Kinase; Pre-B cells in the BM is predominant
B. Delayed onset of normal IgG synthesis; Seen during 5-6th month of life; Resolved during the 16-30th month of life
C. Immunoglobulins decrease in time; Associated with autoimmunity in the patient or in the family; B Cells are present in the peripheral blood
D. IgA and IgG2 deficiency; Symptoms include Repeated sinopulmonary infection, gastrointestinal diseases
ABCD
T or F: In B cell deficiency, the T cells are also affected because there is no activation
False uto-uto
T-CELL DEFICIENCY
- Hypoplasmic thymus
- Failure of development of 3rd and 4th pharyngeal pouches
- Hypoplastic parathyroid gland
- Recurrent viral and fungal infections
DI GEORGE SYNDROME
Pattern of inheritance for Buron X-linked Hypogammaglobulinemia
X-linked nasa name oh
Refers to:
- Characterized by the deficiency in Tyrosine Kinase
- A block in maturation of B cell.
- Pre-B cells in the BM are predominant.
Bruton X-linked Hypogammaglobulinemia
Refers to:
- Delayed onset of normal IgG synthesis
- This is seen during the 5-6th month of life.
- This is commonly resolved during the 16-30th month of life.
Transient Hypogammaglobulinemia of Infants
Refers to:
- OPPOSITE of transient.
- Immunoglobulins are present. However, they will decrease in time (common in early teens, teens, and up to early 20’s).
- Associated with autoimmunity in the patient or in the family
Common Variable Hypogammaglobulinemia
T or F: Common Variable Hypogammaglobulinemia is characterized with low immunoglobulin specifically IgG
False (Characterized by low Ig of any class, no specificity)
Refers to
B cells are present in the peripheral blood, however over time, its function is decreasing to such a point that it cannot produce immunoglobulin
Conmon Variable Hypogammaglobulinemia
Refers to
- Selective immunoglobulin deficiency
- Symptoms includes repeated sinopulmonary infection, gastrointestinal diseases
Dysgammaglobulinemia
Most common deficiency/form of dysgammaglobulinemia
IgA deficiecny
In dysgammaglobulinemia, if both ____ and _____ are deficient, this is associated with increased risk of infection
IgA and IgG2
Refers to:
* There’s a problem in either T-helper cell or T-cytotoxic cell
* Defect in handling intracellular pathogens such as Viral and Fungal Susceptibility
T cell deficiency
T or F: In T cell deficiency, B cell functions are also compromised
True
Enumerate the T cell deficiency diseases
Di George Syndrome
Chronic Mucocutaneous Candidiasis
Refers to:
● Failure of development of 3rd and 4th pharyngeal pouches
● There’s a problem/disorder in Hypoplastic Thymus and Hypoplastic Parathyroid Gland
Di George Syndrome
What are the glands affected in Di George Syndrome?
Hypoplastic Thymus and Hypoplastic Parathyroid Gland
T-CELL DEFICIENCY
- Skin and Mucocutaneous infections with Candida albicans
CHRONIC MUCOCUTANEOUS CANDIDIASIS
COMBINED B & T-CELL DEFICIENCY
MATCHING
1. First human disease successfully treated with gene therapy
2. Severe deficiency of the naturally occurring IgM antibodies to ABO blood group antigens
3. Deficiency: Class I and Class II molecules, T cell receptor, Cytokine receptor, Signal transduction
4. Sinopulmonary infections; Autosomal recessive
A. Severe Combined Immunodeficiency Disorder
(SCID)
B. Ataxia Telangiectasia
C. Adenosine Deaminase (ADA) Deficiency
D. Wiskott-Aldrich Syndrome (X-linked)
CDAB
Refers to skin and mucocutaeous Infection with Candida albicans
Chronic Mucocutaneous Candidasis
Refers to when both T and B cells are affected and there is a bacterial, viral and fungal susceptibility
Combined B and T Cell Deficiency
Which deficiency in Combined T and B Cell predominates?
T cell deficiency
Enumerate the Combined B and T cell Deficiency
- Adenosine Deaminase Deficiency
- Wiskott-Aldrich Syndrome (X linked)
- Severe Combined Immunodeficiency Disorder
- Ataxia Telangiectasia
The first human disease successfully treated with gene therapy
Adenosine Deaminase Deficiecny
In the abscence of ADA, deoxyadenosine will be converted to ________ which is toxic to the lymphocytes
Deoxyadenosie triphosphate
Refers to:
● It is a X-Linked disorder caused by mutation in WAS gene
● Severe deficiency of the naturally occurring IgM antibodies to ABO blood group antigens
● Inability to mount IgM response to the capsule of bacteria such as pneumococci
● It is characterized by Thrombocytopenia, Eczema, and Immunodeficiency
Wiskott-Aldrich Syndrome
What are the levels of IgM, IgA, IgG and IgE in Wiskott-Aldrich Syndrome?
● Low IgM, Normal IgA and IgG, High IgE
Refers to
- X-linked and autosomal disorder
- Patients are prone to pneumocystis pneumonia
- T cells are present while B cells are absent
Severe combined Immunodeficiency
Patients with SCID are prone to ________
Pneumocystis pneumonia
Disease associated with deficiency of T cells in
○ Class I and Class II Molecules
○ T Cell Receptor
○ Cytokine Receptor
○ Signal Transduction
Severe Combined Immunodeficiency Disorder
Refers to
● Autosomal recessive genetic disorder
● Prone to Sinopulmonary infections
● Immunodeficiency:
○ Selective IgA Deficiency
○ Cell mediated defects – variable because it is affected
by B and T cells
○ Other immunoglobulin - variable
Ataxia Telangiectasia
- Refers to uncoordinated muscle movements
- Refers to dilatation of small vessels; seen in scelera of the eye
- Ataxia
- Telangiectasia
